U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    RNF207 ring finger protein 207 [ Homo sapiens (human) ]

    Gene ID: 388591, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    RNF207provided by HGNC
    Official Full Name
    ring finger protein 207provided by HGNC
    Primary source
    HGNC:HGNC:32947
    See related
    Ensembl:ENSG00000158286 MIM:616923; AllianceGenome:HGNC:32947
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1orf188
    Summary
    Enables Hsp70 protein binding activity and transmembrane transporter binding activity. Involved in positive regulation of gene expression. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 5.9), prostate (RPKM 3.0) and 24 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See RNF207 in Genome Data Viewer
    Location:
    1p36.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6206119..6221299)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (5731763..5746943)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6266179..6281359)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 138 Neighboring gene Sharpr-MPRA regulatory region 5942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6265555-6266374 Neighboring gene RNF207 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 139 Neighboring gene Sharpr-MPRA regulatory region 13921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 140 Neighboring gene MPRA-validated peak28 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6279526-6279711 Neighboring gene isoprenylcysteine carboxyl methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6296257-6297229 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6299873-6300619 Neighboring gene ICMT divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6304377-6304934 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6305171-6305522 Neighboring gene hes family bHLH transcription factor 3

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope. Fan LL, et al. J Hum Genet, 2019 Mar. PMID 30542207
    2. Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction. Han QY, et al. Clin Sci (Lond), 2015 Jun. PMID 25599194, Free PMC Article
    3. Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome. Ledford HA, et al. Heart Rhythm, 2022 Feb. PMID 34634443, Free PMC Article
    4. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Pfeufer A, et al. Nat Genet, 2009 Apr. PMID 19305409, Free PMC Article
    5. RING finger protein RNF207, a novel regulator of cardiac excitation. Roder K, et al. J Biol Chem, 2014 Dec 5. PMID 25281747, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of protein quality control of the human ether-a-go-go related gene K(+) channel results in profound long QT syndrome.
      Title: Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome.
    2. Nonsense mutation of RNF207 gene is associated with Long QT syndrome.
      Title: Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.
    3. Data indicate that plasma E3 Ligase Rnf207 (ring finger protein 207) level in acute myocardial infarction patients increased significantly compared with that in healthy people.
      Title: Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction.
    4. RNF207 is an important regulator of action potential duration, likely via effects on HERG trafficking and localization in a heat shock protein-dependent manner.
      Title: RING finger protein RNF207, a novel regulator of cardiac excitation.
    5. Genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    6. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common variants at ten loci influence QT interval duration in the QTGEN Study.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ32096, FLJ46380, FLJ46593

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Hsp70 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of positive regulation of membrane repolarization during cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of regulation of cardiac muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of heart looping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    RING finger protein 207

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_207396.3 → NP_997279.2  RING finger protein 207

      See identical proteins and their annotated locations for NP_997279.2

      Status: VALIDATED

      Source sequence(s)
      AK127700, AL031847, BQ045220, CD673733, DA190055, DB290694, DB636433
      Consensus CDS
      CCDS59.2
      UniProtKB/Swiss-Prot
      A2VCM8, B4DFR6, Q5TGS6, Q6ZRF8, Q6ZS63, Q96MP2
      Related
      ENSP00000367173.4, ENST00000377939.5
      Conserved Domains (3) summary
      smart00184
      Location:25 → 63
      RING; Ring finger
      pfam00643
      Location:93 → 145
      zf-B_box; B-box zinc finger
      cl23765
      Location:202 → 321
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      6206119..6221299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420010.1 → XP_047275966.1  RING finger protein 207 isoform X1

    2. XM_011541439.4 → XP_011539741.2  RING finger protein 207 isoform X2

    3. XM_047420023.1 → XP_047275979.1  RING finger protein 207 isoform X4

    4. XM_047420029.1 → XP_047275985.1  RING finger protein 207 isoform X5

    5. XM_047420021.1 → XP_047275977.1  RING finger protein 207 isoform X3

    RNA

    1. XR_002956484.2 RNA Sequence

    2. XR_002956486.2 RNA Sequence

    3. XR_001737161.3 RNA Sequence

    4. XR_001737159.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      5731763..5746943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336502.1 → XP_054192477.1  RING finger protein 207 isoform X1

    2. XM_054336503.1 → XP_054192478.1  RING finger protein 207 isoform X2

    3. XM_054336505.1 → XP_054192480.1  RING finger protein 207 isoform X4

    4. XM_054336506.1 → XP_054192481.1  RING finger protein 207 isoform X5

    5. XM_054336504.1 → XP_054192479.1  RING finger protein 207 isoform X3

    RNA

    1. XR_008486040.1 RNA Sequence

    2. XR_008486042.1 RNA Sequence

    3. XR_008486041.1 RNA Sequence

    4. XR_008486039.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173795.2: Suppressed sequence

      Description
      NM_173795.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRF8.2 GenPept UniProtKB/Swiss-Prot:Q6ZRF8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools